Related Experiment Videos
An unusual presentation of the Papillon-Lefevre syndrome as recurrent liver abscesses
S Anuradha1, S K Agarwal, N P Singh
1Department of Medicine, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi.
Abstract:
The Papillon-Lefevre syndrome is a rare genetic disorder with a predisposition to severe infections. We describe Papillon-Lefevre syndrome in a 17 year old boy from a family where four out of eight siblings were affected with this disease and who presented with recurrent pyogenic liver abscesses over a period of 9 years, an association never previously reported.
Insights
Papillon-Lefevre syndrome, a rare genetic disorder, can lead to severe infections. This case highlights a unique association with recurrent pyogenic liver abscesses in an affected adolescent.
Area of Science:
- Genetics
- Infectious Diseases
- Dermatology
Background:
- Papillon-Lefevre syndrome is a rare autosomal recessive disorder.
- Characterized by palmoplantar hyperkeratosis and periodontitis.
- Associated with an increased susceptibility to infections.
Observation:
- A 17-year-old male with Papillon-Lefevre syndrome was studied.
- He presented with a 9-year history of recurrent pyogenic liver abscesses.
- Four out of eight siblings in the family were also affected.
Findings:
- This report details a previously undocumented association between Papillon-Lefevre syndrome and recurrent pyogenic liver abscesses.
- The patient experienced multiple liver abscesses over nearly a decade.
- The genetic predisposition of the syndrome likely contributes to severe infection susceptibility.
Implications:
- This finding expands the known clinical spectrum of Papillon-Lefevre syndrome.
- Highlights the importance of considering liver abscesses in affected individuals.
- Suggests potential genetic links between Papillon-Lefevre syndrome and hepatic infections.